To summarize, both the Katna1 and the SPG4 genes could be successfully targeted in the mouse.
Spastin
For spastin, this could be successfully demonstrated at the genetic level (Southern Blotting, long-range PCR and partial sequencing), at the expression level (immunocytochemistry and Western Blotting) as well as by the initial characterization of the animals (gait abnormalities). In addition, it could be proven that both full knockouts, as well as forebrain-specific conditional knockouts, were viable. Furthermore, the full knockout lines were characterized in terms of genotype distribution and a deviation from Mendelian inheritance could be determined with less than the expected number of targeted alleles in the progeny. Additionally, the sterility of homozygous spastin knockout mice could be constated and slightly narrowed down to the germ cells. Also, the body weights of prenatally targeted animals were significantly reduced, the causality for which still has to be determined. In order to do so, more animals at different ages have to be analyzed and their activity levels as well as their food consumption levels have to be determined.
The expression of spastin was studied at different levels: promoter activity and indirectly the RNA expression were analyzed by LacZ stainings of targeted spastinGT/WT-tissues, at the protein level by Western Blotting of different brain regions at different ages, as well as at the subcellular protein expression level (Western Blotting of subcellular and synaptosomal fractionations, immunocytochemistry and ectopic overexpression of pEGFP-tagged spastin into cultivated neurons). In summary, spastin expression was found in all brain regions including hippocampus and cerebellum as well as in most other organs. Its expression level in the brain dropped obviously with increasing age but did not change that much in other organs. Judging from immunostainings, subcellular fractionations and synaptosomal preparations, spastin is found throughout all subcellular locations, including the soluble protein fraction. To narrow down the organelles, additional colocalization experiments need to be done.
Nissl stainings of prenatal spastin knockout mice did not reveal any gross brain morphology abnormalities. However, the density of the CA1 region was reduced by approximately 10 %. One explanation might be cytotoxicity due to hyperpolyglutamylation of microtubules in that region.
Nevertheless, it will be necessary to determine the causality for and the consequences of that reduction. Also, it should be tested whether the observed reduction is a temporary effect during development.
DISCUSSION
116 To further study general depletion of spastin the following experiments need to be done:
quantification of excitatory and inhibitory synapses using primary neuronal cultures or by using isolated brain sections. In the next step, the activity-dependent change is spine quality and quantity should be studied either by using immunofluorescence or by surface biotinylations.
Additionally, a possible alternation in LTP or LTD should be studied by electrophysiological measurements.
By EB3 imaging it was shown that EB3 comets still can enter spines in spastin knockouts. To further study microtubule-dependent spine dynamics, the EB3 spine entry should be quantified both under basal as well as under stimulating conditions.
For behavioral experiments, the full knockout animals should be used to initially test motor function (e. g. using the rotarod test) as well as the activity levels (e. g. using the open field test or the elevated plus maze test) in order to test whether the reduced body weight can be explained by an alternation in the latter ones. Additional behavioral experiments should be carried out using the conditional forebrain-specific knockout mouse line thus circumventing ambiguous interpretation of the results due to the differences in body weight and motor function.
Katanin
For katanin, the successfull targeting could be demonstrated at the genetic level using long-range PCR, genotyping PCR and partial sequencing. Additionally, genotype distribution and litter sizes point to the correct targeting of the gene.
Targeting confirmation at the expression level (immunocytochemistry and Western Blotting) was not as straightforward as for spastin due to the apparent embryonic lethality of homozygous katanin knockout mice and the lack of corresponding negative controls. So far, no reduction in katanin levels could be observed for heterozygous knockouts but a partial reduction in whole brain lysates of conditional Nestin-Cre knockouts and in hippocampal lysates of CamKIIα-Cre knockouts.
Homozygous depletion of katanin was lethal after fertilization. The lethality timepoint still has to be determined to identify katanin’s critical function during embryogenesis. Additionally, although not significant yet, the data obtained so far imply that the heterozygous genotype is also disadvantaged compared to wild type.
Similar to spastin, katanin expression was detected in the hippocampus, the cerebellum as well as in most other organs using the Lac-Z genetrap method. The promoter activity decreased with increasing age. Due to the lack of a negative control, immunostainings for the study of endogenous intracellular katanin expression were not possible. However, homozygous floxed KatnaFL/FL neuronal cultures were already successfully cotransfected with mRFP and Cre vectors making it possible to optimize immunofluorescence conditions for studying katanin’s endogenous
DISCUSSION
expression in future. Otherwise, hippocampal cells derived from conditional katanin knockouts can be used.
At the first glance, neither hetrozygous prenatal katanin knockouts nor forebrain-specific conditional knockouts were impaired regarding general health including body weights, size and activity levels.
Initial behavioral characterization of forebrain-specific katanin knockouts and their wild type littermates was made. Both genotypes did not show any differences in their activity or anxiety levels and their short-time memory did not seem to be impaired. Experiments with longer inter-trial intervals already point to a possible impairment of long-term memory. This will have to be confirmed in future.
Although the initial characterization has been made, a big amount of work will be left to specify spastin’s and katanin’s role for microtubule dynamics and synaptic plasticity. As was shown for both genes, their targeting in a classical way leads to severe developmental phenotypes (e. g. the lethality of homozygous katanin knockout, different body weights and gait parameters for spastin) making it necessary to go for spatiotemporal control of the knockout. Thus, although a lot can be learned using the classical knockout approach, it will be necessary to use the conditional knockouts to learn more about adult synaptic plasticity.
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